Cell division control protein 6 homolog

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Q99741 (CDC6_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified January 25, 2012. Version 102. History...

Clusters with 100%, 90%, 50% identity |

Documents (6) |

Third-party data

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Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents Customize order

Names and origin

Protein names

Recommended name:
Cell division control protein 6 homolog

Alternative name(s):
CDC6-related protein
Cdc18-related protein
Short name=HsCdc18
p62(cdc6)
Short name=HsCDC6

Gene names

Name:	CDC6
Synonyms:	CDC18L

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	560 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.
Subunit structure	Interacts with PCNA, ORC1L, cyclin-CDK and HUWE1. Ref.2 Ref.6
Subcellular location	Nucleus. Cytoplasm. Note: The protein is nuclear in G1 and cytoplasmic in S-phase cells. Ref.2
Involvement in disease	Defects in CDC6 are the cause of Meier-Gorlin syndrome type 5 (MGORS5) [MIM:613805]. MGORS5 is a syndrome characterized by bilateral microtia, aplasia/hypoplasia of the patellae, and severe intrauterine and postnatal growth retardation with short stature and poor weight gain. Additional clinical findings include anomalies of cranial sutures, microcephaly, apparently low-set and simple ears, microstomia, full lips, highly arched or cleft palate, micrognathia, genitourinary tract anomalies, and various skeletal anomalies. While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal. Ref.10
Sequence similarities	Belongs to the CDC6/cdc18 family.

Ontologies

Keywords
Biological process	Cell cycle Cell division DNA replication Mitosis
Cellular component	Cytoplasm Nucleus
Coding sequence diversity	Polymorphism
Disease	Disease mutation Dwarfism
Ligand	ATP-binding Nucleotide-binding
PTM	Phosphoprotein
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	DNA replication Traceable author statement. Source: Reactome DNA replication checkpoint Traceable author statement. Source: ProtInc M/G1 transition of mitotic cell cycle Traceable author statement. Source: Reactome S phase of mitotic cell cycle Traceable author statement. Source: Reactome cell division Inferred from electronic annotation. Source: UniProtKB-KW mitosis Inferred from electronic annotation. Source: UniProtKB-KW negative regulation of DNA replication Traceable author statement. Source: ProtInc negative regulation of cell proliferation Traceable author statement. Source: ProtInc positive regulation of cell cycle cytokinesis Inferred from mutant phenotype. Source: BHF-UCL positive regulation of chromosome segregation Inferred from direct assay. Source: BHF-UCL regulation of cyclin-dependent protein kinase activity Traceable author statement. Source: ProtInc regulation of mitotic anaphase Inferred from mutant phenotype. Source: BHF-UCL regulation of transcription involved in G1/S phase of mitotic cell cycle Traceable author statement. Source: Reactome traversing start control point of mitotic cell cycle Traceable author statement. Source: ProtInc
Cellular component	cytosol Traceable author statement. Source: Reactome nucleoplasm Traceable author statement. Source: Reactome spindle midzone Inferred from direct assay. Source: BHF-UCL spindle pole Inferred from direct assay. Source: BHF-UCL
Molecular function	ATP binding Inferred from electronic annotation. Source: UniProtKB-KW kinase binding Inferred from physical interaction. Source: BHF-UCL nucleoside-triphosphatase activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
CDT1	Q9H211	3	EBI-374862,EBI-456953

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 560

560

Cell division control protein 6 homolog

PRO_0000150979

Regions

Nucleotide binding

202 – 209

ATP Potential

Amino acid modifications

Modified residue

Phosphoserine Ref.7 Ref.8 Ref.9

Modified residue

Phosphoserine Ref.7

Modified residue

166

Phosphothreonine Ref.5

Natural variations

Natural variant

238

T → A. Ref.3
Corresponds to variant rs4135010 [ dbSNP | Ensembl ].

VAR_019349

Natural variant

295

D → N. Ref.3
Corresponds to variant rs4135012 [ dbSNP | Ensembl ].

VAR_019350

Natural variant

299

T → M. Ref.3
Corresponds to variant rs4135013 [ dbSNP | Ensembl ].

VAR_019351

Natural variant

323

T → R in MGORS5. Ref.10

VAR_065493

Natural variant

378

R → H. Ref.3
Corresponds to variant rs4135016 [ dbSNP | Ensembl ].

VAR_019352

Natural variant

441

V → I. Ref.3 Ref.4
Corresponds to variant rs13706 [ dbSNP | Ensembl ].

VAR_019353

Sequences

Sequence

Length

Mass (Da)

Tools

Q99741 [UniParc].

Last modified May 1, 1997. Version 1.
Checksum: 3ED7DE4AF80CB017
Show »

FASTA

560

62,720

        10         20         30         40         50         60 
MPQTRSQAQA TISFPKRKLS RALNKAKNSS DAKLEPTNVQ TVTCSPRVKA LPLSPRKRLG 

        70         80         90        100        110        120 
DDNLCNTPHL PPCSPPKQGK KENGPPHSHT LKGRRLVFDN QLTIKSPSKR ELAKVHQNKI 

       130        140        150        160        170        180 
LSSVRKSQEI TTNSEQRCPL KKESACVRLF KQEGTCYQQA KLVLNTAVPD RLPAREREMD 

       190        200        210        220        230        240 
VIRNFLREHI CGKKAGSLYL SGAPGTGKTA CLSRILQDLK KELKGFKTIM LNCMSLRTAQ 

       250        260        270        280        290        300 
AVFPAIAQEI CQEEVSRPAG KDMMRKLEKH MTAEKGPMIV LVLDEMDQLD SKGQDVLYTL 

       310        320        330        340        350        360 
FEWPWLSNSH LVLIGIANTL DLTDRILPRL QAREKCKPQL LNFPPYTRNQ IVTILQDRLN 

       370        380        390        400        410        420 
QVSRDQVLDN AAVQFCARKV SAVSGDVRKA LDVCRRAIEI VESDVKSQTI LKPLSECKSP 

       430        440        450        460        470        480 
SEPLIPKRVG LIHISQVISE VDGNRMTLSQ EGAQDSFPLQ QKILVCSLML LIRQLKIKEV 

       490        500        510        520        530        540 
TLGKLYEAYS KVCRKQQVAA VDQSECLSLS GLLEARGILG LKRNKETRLT KVFFKIEEKE 

       550        560 
IEHALKDKAL IGNILATGLP

« Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"A human protein related to yeast Cdc6p." Williams R.S., Shohet R.V., Stillman B. Proc. Natl. Acad. Sci. U.S.A. 94:142-147(1997) [PubMed: 8990175] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Human CDC6/Cdc18 associates with Orc1 and cyclin-cdk and is selectively eliminated from the nucleus at the onset of S phase." Saha P., Chen J., Thome K.C., Lawlis S.J., Hou Z.H., Hendricks M., Parvin J.D., Dutta A. Mol. Cell. Biol. 18:2758-2767(1998) [PubMed: 9566895] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], SUBCELLULAR LOCATION, INTERACTION WITH PCNA; ORC1 AND CYCLIN-CDK.
[3]	NIEHS SNPs program Submitted (SEP-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ALA-238; ASN-295; MET-299; HIS-378 AND ILE-441.
[4]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT ILE-441. Tissue: Brain.
[5]	"Improved titanium dioxide enrichment of phosphopeptides from HeLa cells and high confident phosphopeptide identification by cross-validation of MS/MS and MS/MS/MS spectra." Yu L.-R., Zhu Z., Chan K.C., Issaq H.J., Dimitrov D.S., Veenstra T.D. J. Proteome Res. 6:4150-4162(2007) [PubMed: 17924679] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-166, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[6]	"Cdc6 stability is regulated by the Huwe1 ubiquitin ligase after DNA damage." Hall J.R., Kow E., Nevis K.R., Lu C.K., Luce K.S., Zhong Q., Cook J.G. Mol. Biol. Cell 18:3340-3350(2007) [PubMed: 17567951] [Abstract] Cited for: INTERACTION WITH HUWE1.
[7]	"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle." Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M. Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-45 AND SER-54, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[8]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-45, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[9]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-45, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[10]	"Mutations in the pre-replication complex cause Meier-Gorlin syndrome." Bicknell L.S., Bongers E.M., Leitch A., Brown S., Schoots J., Harley M.E., Aftimos S., Al-Aama J.Y., Bober M., Brown P.A., van Bokhoven H., Dean J., Edrees A.Y., Feingold M., Fryer A., Hoefsloot L.H., Kau N., Knoers N.V. Jackson A.P. Nat. Genet. 43:356-359(2011) [PubMed: 21358632] [Abstract] Cited for: VARIANT MGORS5 ARG-323.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

NIEHS-SNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

U77949 mRNA. Translation: AAB38317.1.
AF022109 mRNA. Translation: AAC52071.1.
AY150310 Genomic DNA. Translation: AAN10296.1.
BC025232 mRNA. Translation: AAH25232.1.

IPI

IPI00014575.

RefSeq

NP_001245.1. NM_001254.3.

UniGene

Hs.405958.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2CCH	X-ray	1.70	E/F	89-100	[»]
2CCI	X-ray	2.70	F/I	74-100	[»]

ProteinModelPortal

Q99741.

SMR

Q99741. Positions 161-555.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-28154N.

IntAct

Q99741. 15 interactions.

MINT

MINT-1201847.

STRING

Q99741.

PTM databases

PhosphoSite

Q99741.

Polymorphism databases

DMDM

50400620.

Proteomic databases

PRIDE

Q99741.

Protocols and materials databases

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000209728; ENSP00000209728; ENSG00000094804.

GeneID

990.

KEGG

hsa:990.

UCSC

uc002huj.1. human.

Organism-specific databases

CTD

990.

GeneCards

GC17P038443.

H-InvDB

HIX0202494.

HGNC

HGNC:1744. CDC6.

MIM

602627. gene.
613805. phenotype.

neXtProt

NX_Q99741.

Orphanet

2554. Ear-patella-short stature syndrome.

PharmGKB

PA26271.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG19160.

GeneTree

ENSGT00530000063498.

HOGENOM

HBG714312.

HOVERGEN

HBG050860.

InParanoid

Q99741.

OMA

LYEAYSN.

OrthoDB

EOG45756C.

PhylomeDB

Q99741.

Enzyme and pathway databases

Reactome

REACT_152. Cell Cycle, Mitotic.
REACT_1538. Cell Cycle Checkpoints.
REACT_383. DNA Replication.

Gene expression databases

ArrayExpress

Q99741.

Bgee

Q99741.

CleanEx

HS_CDC6.

Genevestigator

Q99741.

GermOnline

ENSG00000094804. Homo sapiens.

Family and domain databases

InterPro

IPR003593. ATPase_AAA+_core.
IPR003959. ATPase_AAA_core.
IPR015163. Cdc6_C_dom.
IPR016314. Cell_div_Cdc6.
IPR011991. WHTH_trsnscrt_rep_DNA-bd.
[Graphical view]

Gene3D

G3DSA:1.10.10.10. Wing_hlx_DNA_bd. 1 hit.

K02213.

Pfam

PF00004. AAA. 1 hit.
PF09079. Cdc6_C. 1 hit.
[Graphical view]

PIRSF

PIRSF001767. Cdc6. 1 hit.

SMART

SM00382. AAA. 1 hit.
SM01074. Cdc6_C. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

NextBio

4156.

PMAP-CutDB

Q99741.

SOURCE

Search...

Entry information

Entry name

CDC6_HUMAN

Accession

Primary (citable) accession number: Q99741
Secondary accession number(s): Q8TB30

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 19, 2004
Last sequence update:	May 1, 1997
Last modified:	January 25, 2012
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

SIMILARITY comments

Index of protein domains and families

Names·Attributes·General annotation·Ontologies·Interactions·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·Documents

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Binary interactions

With

Entry

#Exp.

IntAct

Notes

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents